title: A new case of Pfeiffer syndrome with mutation in FGFR2.
abstract: We report on a sporadic case of Pfeiffer syndrome in a male newborn with complex craniosynostosis, broad thumbs and great toes and early demise. SSCP and direct sequencing revealed a missense mutation at position 1037 of the exon B (or IIIc) of the FGFR2 gene (codon 342) resulting in a cysteine to serine modification (TGC-TCC). Genotype-phenotype correlations between the FGFRs mutations and the different craniosynostotic syndromes are discussed.
authors.affiliation: Division of Medical Genetics, CHUV, Lausanne, Switzerland.
authors.forename: M C
authors.initials: MC
authors.lastname: Addor
authors.forename: F
authors.initials: F
authors.lastname: Gudinchet
authors.forename: R N
authors.initials: RN
authors.lastname: Laurini
authors.forename: G
authors.initials: G
authors.lastname: Pescia
authors.forename: D F
authors.initials: DF
authors.lastname: Schorderet
mesh_terms: D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging / Q000235:genetics*; D003398:Craniosynostoses / Q000145:classification / Q000000981:diagnostic imaging / Q000235:genetics; D017809:Fatal Outcome; D016222:Fibroblast Growth Factor 2 / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017354:Point Mutation; D011859:Radiography
chemical_list: D016222:Fibroblast Growth Factor 2